Exosome Proteomics of SOD1 D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
 
Yazarlar (7)
Mukesh Gautam
Northwestern University Feinberg School Of Medicine
Ali Laith
Northwestern University Feinberg School Of Medicine
Prof. Dr. Aslıhan GÜNEL Kırşehir Ahi Evran Üniversitesi, Türkiye
Melda Yilmaz
Kocaeli Üniversitesi
Prof. Dr. Ayşe Nazlı Başak Koç University, Türkiye
Halil İdrisoglu
İstanbul Tıp Fakültesi
Pembe Hande Ozdinler
Northwestern University Feinberg School Of Medicine
Makale Türü Açık Erişim Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
Dergi Adı Annals of Clinical and Translational Neurology (Q1)
Dergi ISSN 2328-9503 Wos Dergi Scopus Dergi
Dergi Tarandığı Indeksler SCI-Expanded
Makale Dili İngilizce Basım Tarihi 09-2026
Cilt / Sayı / Sayfa 13 / 1 / 131–143 DOI 10.1002/acn3.70208
Makale Linki https://doi.org/10.1002/acn3.70208
UAK Araştırma Alanları
Genetik Biyokimya Moleküler Genetik
Özet
Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well‐defined patient populations. Methods Exosomes are isolated from serum either single or multiple time points from members of one family, who have SOD1D90A mutation, and their protein content is assessed by tandem mass‐spec proteomics. Ingenuity Pathway analysis is used to highlight cellular events that are perturbed as the disease progressed. The linear regression analysis, using ALSFRS scores of patients and the protein content, helps identify potential pharmacokinetic biomarkers, which are confirmed with the ELISA assay. Results Father, Son, and Daughter …
Anahtar Kelimeler
ALS | biomarker | exosomes | proteomics | SOD1
BM Sürdürülebilir Kalkınma Amaçları
Atıf Sayıları
Google Scholar 1
Exosome Proteomics of SOD1 D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

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